Work

Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

Year: 2007

Type: article

Study design: Case Report

Source: Brain and Development

DOI: 10.1016/j.braindev.2007.10.007

Authors: Uluç Yiş, Stefano Pepe, Semra Hız Kurul, Andrea Ballabio, Maria Pia Cosma, Eray Dirik

Institutions: Dokuz Eylül University, Telethon Institute Of Genetics And Medicine, Federico II University Hospital, University of Naples Federico II

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2124206480

FWCI: 0.791

Cites: 9

Cited by: 12

Related to: 10